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Study & Trial Resource Center

Our community is involved in the first clinical trial of a targeted therapy for myotonic dystrophy, and a number of other critical studies are underway. Click on the links below and to the right to learn more about the clinical trials process, important do's and don'ts for current trial participants, and more. A list of current studies and trials can be accessed below.

MDF community members have been active partners in bringing the research to this point, by supporting and participating in studies, joining registries, responding to surveys, and funding patient advocacy organizations like MDF. The progress achieved would not be possible without the commitment and participation of people living with DM, their families, caregivers and friends.

Questions?

If you don’t see answers to your specific questions here, please send MDF an email. Keep in mind that some of your questions may not be answerable right now, either because the information is proprietary, could impact the success of trials if released, or isn’t known yet.

If you would like to contact Ionis Pharmaceuticals or AMO Pharma directly about their DM1 clinical trials, click here to send Ionis an email, and here for AMO Pharma. 

Current Studies and Trials

Current trial participants should view our short Clinical Trials Training Video to familiarize yourself with the clinical trials process and important do's and don'ts, such as what content is appropriate to share publicly.

We strongly encourage you to join registries, including the Myotonic Dystrophy Family Registry and the DM and FSHD Registry at the University of Rochester, and make sure you update your information annually. You also may have an opportunity to participate in biobanks and follow organizations like MDF to make sure you have current information regarding progress and research needs.

See the list below for information on current studies and trials.

   Status

   Study 

   Recruiting

Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
       Conditions: Myotonic Dystrophy Type 1
       Location: Multiple sites
       Sponsor: Myotonic Dystrophy Clinical Research Network
       Contact: Co-PIs Drs. Charles Thornton and Nicholas Johnson; see site-specific contact information below

   If you are interested in this research study, please contact one of the study coordinators listed below or email Brittney Holmberg.
   Recruiting:

    Not yet recruiting:

 Recruiting

Safety, Tolerability and Pharmacokinetics of ERX-963 in Adults With Myotonic Dystrophy Type 1
       Conditions: Confirmed DM1. Ages 18-60 with the age of onset greater than 16. An Epworth Sleepiness Scale of >11 or participants who sleep an average >10 hours a day.
       Location:

  • Palo Alto, CA
  • Iowa City, IA

       Sponsor: Expansion Therapeutics, Inc.
       Contact: Anita Seto, PhD, 858-764-4290, info@expansionrx.com

 Recruiting

Biomarker Development for Muscular Dystrophies
       Conditions: Confirmed DM1 or DM2. Males and females ages and older. In addition, male and female healthy volunteers ages 18 and older who are family members of an individual with muscular dystrophy also are invited to participate.
       Location: Boston, MA
       Sponsor: Boston Children's Hospital and Massachusetts General Hospital
       Contact: Thurman Wheeler, MD or Ningyan Hu, MS, 617-726-7506; Basil Darras, MD, or Raymond Belanger-Deloge, 617-919-1806

   Recruiting Developmental Brain Disorders: Parent Survey of Symptoms and Function
       Conditions: Children with genetic disorders that can result in autism, developmental and intellectual disability, seizures, challenging behaviors, movement disorders, vision/hearing loss, or any combination of these problems.
       Location: Online Survey
       Sponsor: University of Rochester, Rochester, NY
                     Cardiff University, Cardiff, Wales, United Kingdom
       Contact: DBDStudy@Cardiff.ac.uk or (585) 275-9330 (secure messages can be left at this number.)
 
   Recruiting Study of Pathogenesis and Progression in DM (STOPP-DM2)
       Conditions: DM2 ages 18-80 still open for enrollment; DM1 enrollment is closed
       Location: University of Rochester, Rochester, NY
       Sponsor: NIH
       Contact: Jeanne Dekdebrun, M.S., (585)276-4611
 
   Recruiting

Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years
       Conditions: Myotonic Dystrophy, Steinert
       Location: Lille, France
       Sponsor: Hôpital Calmette, CHRU
       Contact: Thierry Perez, MD

   Recruiting NIPD on CFTC for Triplet Repeat Diseases (DIACCIMEX)
       Conditions: Expectant couple (pregnant woman between 9 and 34 weeks of gestation and her spouse) at risk of transmitting a triplet-repeat related genetic disease including Myotonic Dystrophy type 1
       Location: Bordeaux, France
          Montpellier, France
          Nice, France
          Nîmes, France
          Rennes, France
          Saint Brieuc, France
          Schiltigheim, France
          Toulouse, France
       Sponsor: University Hospital, Montpellier
       Contact: Marie Claire VINCENT, PhD-PharmaD, 411759879 ext 33
          Claire GUISSART, 411759879 ext 33
 
   Recruiting Clinical Outcome Measures in Myotonic Dystrophy Type 2 (COMEDY-2)
       Conditions: Myotonic Dystrophy Type 2
       Location: Friedrich-Baur-Institue, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
       Sponsor: Prof. Dr. Benedikt Schoser
       Contact: Benedikt Schoser, MD
 
   Recruiting Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy (TREAT-CDM)
       Conditions: Children up to age 15 with Congenital Myotonic Dystrophy
       Locations: Richmond, VA
          London, Ontario, Canada
          Milano, Italy, 20162
       Sponsor: Virginia Commonwealth University
          Neuromuscular Omnicomprehensive Clinical Center
          University of Wetern Ontario
       Contact: Nicholas Johnson, MD, (804)628-6439
          Brittney A Holmberg, (804)628-6439
 

   Recruiting

Myotonic Dystrophy Family Registry
       Conditions: All types of DM
       Location: Online/Global
       Sponsor: Myotonic Dystrophy Foundation

   Recruiting

       Conditions: DM1; DM2; Congenital Myotonic Dystrophy;
          Muscular Dystrophy
       Location: Rochester, NY
       Sponsor: University of Rochester, National Institute of
          Neurological Disorders and Stroke (NINDS)
       Contact: Registry Coordinator, (888)925-4302
 
   Recruiting Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
       Conditions: Adults with DM1
       Location: Mexico City, Mexico
       Sponsor: National Institute of Respiratory Diseases, Mexico
       Contact: Martha G Torres Fraga, MD, +(52)555 666 8640
 

   Recruiting

Characterization of Sleep, Neuropsychology and Brain Changes in Adults with Myotonic Dystrophy Type 1
       Conditions: DM1 and Unaffected
       Location: Stanford, CA (Including Stanford Center for Sleep Sciences and Medicine)
       Sponsor: NIH/Investigator-Initiated
       Contact: Stanford Neuromuscular Research Line (650)725-4341
 

   Recruiting

Insulin Resistance and Insulin Secretion in Patients with Myotonic Dystrophy
       Conditions: DM1
       Location: Stanford, CA
       Sponsor: Stanford University
       Contact: Stanford Neuromuscular Research Line (650)725-4341
 

   Recruiting

Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy in Children
       Conditions: DM1 and Unaffected
       Location: Stanford, CA
       Sponsor: Lucile Packard Children's Hospital, Stanford University
       Contact: Stanford Neuromuscular Research Line (650)725-4341
 
   Recruiting Characterizing the Sleep and Gastrointestinal Changes in Adults with Myotonic Dystrophy (Questionnaire-based)
       Conditions: Myotonic Dystrophy
       Location: Stanford, CA
       Sponsor: Stanford University
       Contact: Stanford Neuromuscular Research Line 650-725-4341
 
   Recruiting Venous Thromboembolism in Myotonic Dystrophy Type 1 (DM1-VTE)
       Conditions: Myotonic Dystrophy Type 1
       Location: Service de Cardiologie - Hôpital Cochin, France
       Sponsor: Assistance Publique - Hôpitaux de Paris
              AFM-Téléthon (Funding) 
              Recherche Clinique Paris Descartes Necker Cochin Sainte Anne
 
   Enrolling
   by invitation
Muscle Relaxation in Myopathies With Positive Muscle Phenomena
       Conditions: Adults with DM2
       Location: Nijmegen, Netherlands
       Sponsor: Radboud University
       Contact: Baziel G van Engelen, MD, PhD, +(31)024 361 43 08
   Enrolling
   by invitation

       Conditions: All types of DM
       Location: Baltimore, MD
       Sponsor: Johns Hopkins University
 

   Not yet
   recruiting

Efficacy and Safety of Tideglusib in Congenital Myotonic Dystophy
       Conditions: Congenital Myotonic Dystrophy
       Location: Palo Alto, CA
          Iowa City, IA
          Rochester, NY
          Norfolk, VA
          London, Ontario, Canada
       Sponsor: AMO Pharma Limited

   Active,
   not recruiting
Sudden Cardiac Death Stratification in Myotonic Dystrophy Type 1 Patients
       Conditions: Adults (18-75) with DM1 confirmed by genetic testing
       Sponsor: University of Campania "Luigi Vanvitelli"
 
   Active,
   not recruiting
Kennedy Krieger DM2 Natural History Study
       Conditions: Adults (18+) with DM2 confirmed by genetic testing, LVEF >35% on two-dimensional echocardiography, and permanent pacing indication according to the current guidelines
       Location: Baltimore, MD
       Sponsor: Kennedy Kreiger Institute
       Contact: Doris G. Leung, MD, PhD, (443)923-9521
 

   Active,
   not recruiting

The Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials (PhenoDM1)
       Conditions: DM1
       Location: Newcastle and London
       Sponsor: Newcastle-upon-Tyne Hospitals NHS Trust
       Contact: Nikoletta Nikolenko, M.D., Ph.D., +4478 7051 7410
 
   Active,
   not recruiting
       Conditions: Adults (18-65 years old) diagnosed with DM1
          after the age of 21 or with a family history of DM1
       Location: Iowa City, IA
       Sponsor: National Institute of Neurological Disorders
          and Stroke (NINDS)
 
   Active,
   not recruiting

       Conditions: DM1; myopathy; muscular weakness; respiratory insufficiency
       Location: Paris, France
       Sponsor: Assistance Publique - Hôpitaux de Paris
 

   Unknown German Language Screening Questionnaire for Symptoms of Respiratory Muscle Weakness and Sleep-disordered Breathing in Patients With Neuromuscular Disorders
       ConditionsGerman Adults (18-80 years old), All types of DM, patients without any type of home ventilatory support
       Location: Münster, Germany
       Sponsor: Westfälische Wilhelms-Universität Münster
       Contact: Matthias Boentert, MD, +49-251-83 ext. 44458
 

   Unknown

Sleep Breathing Disorders, a Main Trigger for Cardiac Arrhythmias in Type 1 Myotonic Dystrophy
       Conditions: DM1
       Location: Grenoble, France
       Sponsor: University Hospital, Grenoble
       Contact: Amina Fontanell, +33 4 76 76 76 62
 
   Unknown Non Invasive Prenatal Testing of Single-Gene Disorders
       Conditions: All types of DM
       Location: Maastricht, Netherlands
       Sponsor: Maastricht University Medical Center
       Contact: Christine EM de Die, MD PhD, +31 4 33877859
 

 

Clinical Trials FAQs

What are clinical trials?

Clinical trials are studies conducted using human participants to assess the safety and activity of new therapies in development. Clinical trials produce a lot of interest and excitement. It is important to realize, however, that just because an investigational compound is “tailor made” doesn’t mean that it will be safe or even effective; the purpose of a clinical trial is to find that out. This trial is an important first step, and all of us are interested in having it go well. Even if this medication does not work, we will learn as much as possible to guide the development of newer and better treatments in the future.

What are the different phases of clinical trials?

Clinical trials can be categorized into distinct phases depending upon the stage of clinical development of the drug. Phase I studies are the initial studies conducted in humans designed to primarily evaluate the safety and “pharmacokinetics” (the body’s reaction to a drug) in humans (often healthy humans). Phase II and III studies are larger, longer studies in affected individuals that continue to evaluate the safety of the drug as well as the activity and effectiveness of the drug prior to requesting regulatory agencies for marketing approval. Phase IV studies are studies designed to provide additional information about a drug that has been approved for marketing and is already available to qualified patients.

What is a placebo?

A placebo is an inactive drug administered to some of the patients (the placebo arm or control group) in a trial. This control group is essential as it provides a basis for comparison and for assessing the effects and efficacy of trial drugs. Well-controlled clinical studies, which often include placebo arms or groups, are necessary to establish the risk and benefit profile of the compound, as well as toevaluate the safety and tolerability of trial drugs.

What does "blinded" mean in a clinical trial?

A blinded clinical trial means you, your study doctor, and the study staff will not know if you have been given active drug or placebo. This helps to ensure that bias doesn't distort the conduct of the trial or the interpretation of the results.

Can trial participants discuss their results publicly?

We understand the community is eager to hear about results and the experiences of those participating, but sharing this information publicly can have a significant impact on the study, such as bias the results of a double-blind trial, potentially unblind the trial altogether, or even render the study inconclusive causing the trial to fail whether the treatment was effective or not. We know the community is anxious to get to effective treatments. We all have a role to play in making sure that we are supporting these clinical trial efforts.

For more information on discussing clinical trials publicly, please click here.

Resources for study & trial participants

If you have additional questions about the clinical trial process, please contact MDF.

IONIS-DMPKRx

Ionis Pharmaceuticals has developed an antisense drug (IONIS-DMPKRx) for the potential treatment of DM1. DM1 is caused by an abnormal expansion of three nucleotide repeats within the DMPK gene. The severity and age of onset of DM1 correlates with the number of triplet repeats, which increases from one generation to the next.

What Was IONIS-DMPKRx?

The genetic defect in the DMPK gene creates a toxic RNA rather than a disease-causing protein. The toxic RNA accumulates within the nucleus of the cell and prevents the production of proteins essential for normal cellular function. IONIS-DMPKRx is designed to target the toxic RNA and reduce its accumulation, thereby restoring normal cellular function. In animal studies, Ionis Pharmaceuticals showed that an antisense compound targeting the DMPK RNA entered muscle cells and significantly reduced the toxic RNA.

Effective reductions of toxic RNA led to a reversal of the disease symptoms, mainly myotonia, that was sustained for up to one year after treatment in a mouse model of DM1. Hence by removing toxic RNA, IONIS-DMPKRx was studied as a potentially effective approach to treating patients with DM1. 

Phase I Trial Summary

Ionis Pharmaceuticals has completed a Phase I study evaluating the safety of IONIS-DMPKRx in healthy volunteers. In this study, IONIS-DMPKRx was well tolerated at all dose levels tested with no safety or tolerability concerns. The compound was delivered by a subcutaneous injection. All study participants completed the study.

A Phase I/IIa study to evaluate the safety and dose-range finding of IONIS-DMPKRx in patients with DM1 has completed. 

Phase I/II Trial Summary

Results from the Phase I/II Trial study were announced on January 5, 2017: Ionis Pharmaceuticals Reports DMPKRx Phase 1/2 Trial Results. Ionis Pharmaceuticals and Biogen also released a letter to the DM community in January 2017.

Click here to see the Ionis Pharmaceuticals drug development pipleline. 

AMO PHARMA

AMO Pharma, Ltd. has developed a glycogen synthase 3 beta (GSK3β) inhibitor (tideglusib or AMO-02) for the potential treatment of children, adolescents and adults with congenital- and juvenile-onset DM1.

What is AMO – Tideglusib?

DM1 is caused by a mutation in the DMPK gene that alters gene splicing and production of proteins essential for normal cell function. The DMPK mutation is accompanied by increased levels of the enzyme GSK3β. Tideglusib acts to inhibit the increase in GSK3β. By inhibiting GSK3β, AMO Pharma hopes tideglusib could mitigate downstream changes in gene splicing, protein production and thereby serve as a treatment for DM1.

Tideglusib was originally developed by Noscira, S.A. for other indications. Information about the drug’s safety and efficacy profile is available from Noscira’s prior studies. AMO Pharma acquired and repurposed tideglusib to study in DM1 based on its activity on GSK3β and studies supporting a role for GSK3β in the disease.

Phase 2 Trial

AMO Pharma launched a Phase 2 study of Tideglusib in summer 2016 to evaluate the safety and efficacy of two different doses for treatment of adolescent and adult congenital- and juvenile-onset DM1. The study is currently closed. It was held at the Newcastle Upon Tyne Hospitals NHS Trust (Newcastle, U.K.) for subjects aged between 12 and 45 years. Included subjects were required to have a genetically confirmed diagnosis of congenital- or juvenile-onset DM1, a Clinical Global Impression – Severity (CGI-S) score of 4 or greater, and be able to walk and able to complete a 10 meter walk/run test. Subjects received the drug for 14 weeks. The primary outcome of the study is assessment of adverse events of tideglusib. For a recent summary of the study, click here.

Study details are available at clinicaltrials.gov or www.amo-pharma.com.

 

 

 

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